Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 10 | 20304158 | intergenic variant | G/T | snv | 0.15 |
|
0.810 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
1.000 | 0.120 | 3 | 157136953 | downstream gene variant | G/A | snv | 7.9E-02 |
|
0.810 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
1.000 | 0.120 | 5 | 94221997 | intron variant | A/G | snv | 8.7E-02 |
|
0.810 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 10 | 57429418 | intergenic variant | T/C | snv | 0.55 |
|
0.810 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
0.882 | 0.160 | 10 | 48491914 | intron variant | C/T | snv | 0.38 |
|
0.810 | 1.000 | 1 | 2011 | 2014 | ||||||||
|
0.882 | 0.160 | 6 | 84468550 | intron variant | T/C | snv | 0.52 |
|
0.710 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.080 | 1.000 | 8 | 2003 | 2020 | |||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
0.070 | 0.857 | 7 | 2003 | 2016 | |||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.060 | 0.500 | 6 | 2006 | 2018 | |||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
0.060 | 0.833 | 6 | 2010 | 2017 | |||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.050 | 0.800 | 5 | 2006 | 2012 | ||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.050 | 0.600 | 5 | 2005 | 2017 | |||||||
|
0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.040 | 0.750 | 4 | 2003 | 2013 | |||||||
|
0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv |
|
0.040 | 0.750 | 4 | 2010 | 2017 | |||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.040 | 1.000 | 4 | 2017 | 2019 | ||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.040 | 0.750 | 4 | 2005 | 2017 | |||||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
0.040 | 0.750 | 4 | 2013 | 2017 | ||||||||
|
0.752 | 0.480 | 6 | 43777358 | non coding transcript exon variant | C/A | snv | 0.31 |
|
0.040 | 1.000 | 4 | 2011 | 2018 | ||||||||
|
0.827 | 0.320 | 7 | 134459206 | non coding transcript exon variant | G/A | snv | 0.33 |
|
0.040 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv |
|
0.040 | 1.000 | 4 | 2011 | 2017 | |||||||||
|
0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 |
|
0.030 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 |
|
0.030 | 1.000 | 3 | 2014 | 2017 | ||||||||
|
0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv |
|
0.030 | 1.000 | 3 | 2011 | 2015 | |||||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.030 | 0.667 | 3 | 2006 | 2009 | |||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2009 | 2016 |